Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.A193delFs

CDKN1C

329 papers

RefSeq Summary

This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cel...

Pfam Domains

CDIaa 32–82UCSCCyclin-dependent kinase inhibitor

Gene Aliases

HGNC Name

cyclin dependent kinase inhibitor 1C

HGNC Previous Symbols

BWCR; BWS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000076.2
p.A193delFs
c.579delA
Surrounding Variants
1 paper
NM_001122630.2
p.A182T
c.544G>A
1 paper
NM_000076.2
p.P190_P192del3
c.568_575del9
1 paper
NM_001122630.2
p.P183_A185ins1
c.549_554dup6
1 paper
NM_001122630.2
p.P183_A185del0
c.549_554del6
1 paper
NM_001122630.2
p.A180insFs
c.539_540ins11
1 paper
NM_001122630.2
p.P183_A185del3
c.547_554del9
1 paper
NM_001122630.2
p.P181_A185del0
c.543_554del12
1 paper
NM_001122630.2
p.P179S
c.535C>T
1 paper
NM_000076.2
p.A199insFs
c.596_597ins11
1 paper
NM_001122630.2
p.P177L
c.530C>T
1 paper
NM_000076.2
p.A199_P200insFs
c.597_598ins11
1 paper
NM_001122630.2
p.P189_A190ins10
c.565_569ins30
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